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rs151340622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151340622(G;G)
Make rs151340622(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50081723
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340622
dbSNP (classic)rs151340622
ClinGenrs151340622
ebirs151340622
HLIrs151340622
Exacrs151340622
Gnomadrs151340622
Varsomers151340622
LitVarrs151340622
Maprs151340622
PheGenIrs151340622
Biobankrs151340622
1000 genomesrs151340622
hgdprs151340622
ensemblrs151340622
geneviewrs151340622
scholarrs151340622
googlers151340622
pharmgkbrs151340622
gwascentralrs151340622
openSNPrs151340622
23andMers151340622
SNPshotrs151340622
SNPdbers151340622
MSV3drs151340622
GWAS Ctlgrs151340622
Max Magnitude0
ClinVar
Risk rs151340622(G;G)
Alt rs151340622(G;G)
Reference Rs151340622(T;T)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49846380T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012566.14,